Albuterol in Individuals With Late Onset Pompe Disease (LOPD)

NCT01859624 | Completed Phase 1

• 1 other identifier: Pro00034177
• Study Type: interventional
• Target: 8
• Locations: 1 country
• Sites: 1

Brief Summary

Albuterol is a drug approved by the US Food and Drug Administration (FDA) for treating breathing problems such as asthma. Studies have shown that albuterol may be beneficial in improving muscle function in people with late-onset Pompe disease. The purpose of this study is to evaluate whether albuterol is safe and effective for improving muscle function in people with late-onset Pompe disease, whether or not they are receiving enzyme replacement therapy (ERT). For this study, albuterol is considered an investigational drug. The word "investigational" means albuterol is not approved by the FDA for individuals with late-onset Pompe disease.

Conditions

Pompe Disease

Keywords

LOPD; Pompe Disease

Outcome Measures

Primary Outcomes (1)

• Number of Participants with Adverse Events

  24 weeks

Secondary Outcomes (2)

• Change in forced vital capacity at 3 months

  Baseline and week 12

• Change in 6 minute walk test in 6 months.

  Baseline and 24 weeks

Study Arms (1)

Albuterol

EXPERIMENTAL

This study includes the off-label administration of oral albuterol (4 mg pill) and tracking the effect of motor function at two additional visits, 6 and 12 weeks following the initiation of the study drug. The initial dose of albuterol will be a 4 mg daily for the first 6 weeks. If the 4 mg is well tolerated, the dose will be increased to 8 mg at the 6 week visit.

Drug: Albuterol

Interventions

Albuterol DRUG

Albuterol 4 mg

Albuterol

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Diagnosis of Pompe disease by blood acid alpha-glucosidase (GAA) assay and GAA gene sequencing
• Age: 18+ years at enrollment

You may not qualify if:

• Continuous invasive ventilation (via tracheostomy or endotracheal tube)
• Clinically relevant illness within two weeks of enrollment including fever \> 38.2o C, vomiting more than once in 24 hours, seizure, or other symptom deemed contraindicative to new therapy.
• Chronic heart disease (Myocardial infarction, arrythmia, cardiomyopathy)
• History of seizure disorder
• Hypothyroidism
• Pregnancy/Breast Feeding \[Women of childbearing potential must have a negative urine pregnancy test at each study visit. In addition, at Screening/Baseline women of childbearing potential must have been using a medically acceptable contraceptive for at least 3 months prior to study enrollment OR the subject a) has a regular menstrual cycle, b) Day 1 (onset of menses) for the current cycle is known, and c) the urine pregnancy test can be administered within the first two weeks of the current cycle (between Days 1 and 14)\]. The urine pregnancy test will be administered and interpreted by Stephanie Dearmey, Physician Assistant (PA-C), who has completed training from the Department of Obstetrics and Gynecology. Mrs. Dearmey will use a commercially available test kit specified by the point-of-care testing policies. If these criteria for urine pregnancy testing are not met at the Screening/Baseline visit, then a blood pregnancy test will be done.
• Patients on a non-standard schedule for ERT; for example, weekly infusions as opposed to infusions every two weeks.
• The use of the following concommitant meds is prohibited during the study:
• diuretics (water pill);
• digoxin (digitalis, Lanoxin);
• beta-blockers such as atenolol (Tenormin), metoprolol (Lopressor), and propranolol (Inderal);
• tricyclic antidepressants such as amitriptyline (Elavil, Etrafon), doxepin (Sinequan), imipramine (Janimine, Tofranil), and nortriptyline (Pamelor);
• Monoamine oxidase (MAO) inhibitors such as isocarboxazid (Marplan), phenelzine (Nardil), rasagiline (Azilect), selegiline (Eldepryl, Emsam), or tranylcypromine (Parnate); or
• other bronchodilators such as levalbuterol (Xopenex), bitolterol (Tornalate), pirbuterol (Maxair), terbutaline (Brethine, Bricanyl), salmeterol (Serevent), isoetherine (Bronkometer), metaproterenol (Alupent, Metaprel), or isoproterenol (Isuprel Mistometer).

Sponsors & Collaborators

• Duke University: lead

Study Sites (1)

Duke University Medical Center

Durham, North Carolina, 27710, United States

Location

Related Publications (2)

• Koeberl DD, Li S, Dai J, Thurberg BL, Bali D, Kishnani PS. beta2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease. Mol Genet Metab. 2012 Feb;105(2):221-7. doi: 10.1016/j.ymgme.2011.11.005. Epub 2011 Nov 11.

  PMID: 22154081 BACKGROUND

• Koeberl DD, Austin S, Case LE, Smith EC, Buckley AF, Young SP, Bali D, Kishnani PS. Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease. FASEB J. 2014 May;28(5):2171-6. doi: 10.1096/fj.13-241893. Epub 2014 Jan 17.

  PMID: 24443373 RESULT

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

Albuterol

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Ethanolamines; Amino Alcohols; Alcohols; Organic Chemicals; Amines; Phenethylamines; Ethylamines

Study Officials

• Dwight D Koeberl, MD, PhD

  Duke University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 8, 2013
• First Posted: May 22, 2013
• Study Start: June 1, 2012
• Primary Completion: April 1, 2013
• Study Completion: April 1, 2013
• Last Updated: July 5, 2019

Record last verified: 2019-06

Locations

US (1)